Amin Z.Saffari - Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Rudbeck laboratory
Jonatan Halvardson - Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Rudbeck laboratory
Lars Feuk - Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Rudbeck laboratory

Copy number variation (CNV) is a significant source of human genetic diversity and it’s also known to sometimes cause diseases. CNVs are generally identified using array based approaches. However, with the development of next generation sequencing techniques there is now a great need for analysis tools that can be used to identify CNVs from sequence data. In this research, we have developed a kernel smoothing algorithm to identify CNVs based on exome sequencing data from parent-offspring trios

CNV, Next generation sequencing, Smoothing algorithm